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rs199469639

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199469639(G;G)
Make rs199469639(G;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position137639916
GeneKLHL3
is asnp
is mentioned by
dbSNPrs199469639
ebirs199469639
HLIrs199469639
Exacrs199469639
Varsomers199469639
Maprs199469639
PheGenIrs199469639
hapmaprs199469639
1000 genomesrs199469639
hgdprs199469639
ensemblrs199469639
gopubmedrs199469639
geneviewrs199469639
scholarrs199469639
googlers199469639
pharmgkbrs199469639
gwascentralrs199469639
openSNPrs199469639
23andMers199469639
23andMe allrs199469639
SNP Nexus

SNPshotrs199469639
SNPdbers199469639
MSV3drs199469639
GWAS Ctlgrs199469639
Max Magnitude0
ClinVar
Risk rs199469639(G;G)
Alt rs199469639(G;G)
Reference rs199469639(T;T)
Significance Pathogenic
Disease Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism
Variation info
Gene KLHL3
CLNDBN Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism, type 2
Reversed 1
HGVS NC_000005.9:g.136975605A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023473.2, RCV000128507.1,